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congenital adrenal hyperplasia
Summary
- Synonym
-
- adrenal hyperplasia 1
- congenital lipoid adrenal hyperplasia
- lipoid CAH
- Definition
- A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.
- Super Class
- physical disorder steroid inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0050811
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4191 | MDH2 | malate dehydrogenase 2 | |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | |
| 8630 | HSD17B6 | hydroxysteroid 17-beta dehydrogenase 6 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 55997 | CFC1 | cryptic, EGF-CFC family member 1 | |
| 146183 | OTOA | otoancorin |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P49748 | Very long-chain specific acyl-CoA dehydrogenase, mitochondrial | |
| Q04760 | Lactoylglutathione lyase | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 | |
| Q7RTW8 | Otoancorin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0000868 | Decreased fertility in females |
| HP:0000939 | Osteoporosis |
| HP:0001508 | Failure to thrive |
| HP:0002215 | Sparse axillary hair |
| HP:0002221 | Absent axillary hair |
| HP:0002225 | Sparse pubic hair |
| HP:0002231 | Sparse body hair |
| HP:0002555 | Absent pubic hair |
| HP:0002750 | Delayed skeletal maturation |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 1586 | CYP17A1 | cytochrome P450 family 17 subfamily A member 1 |
| 3284 | HSD3B2 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
| 1584 | CYP11B1 | cytochrome P450 family 11 subfamily B member 1 |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 |
